ClinVar for MedGen (Select 436974) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359197	NM_020041.3(SLC2A9):c.1202C>T (p.Thr401Met)	SLC2A9 (T372M +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GLikely pathogenic
Select item 3359196	NM_020041.3(SLC2A9):c.570T>G (p.Ser190Arg)	SLC2A9 (S161R +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GLikely pathogenic
Select item 3065291	NM_020041.3(SLC2A9):c.611_613dup (p.Val204_Thr205insMet)	SLC2A9	Duplication (inframe_insertion)	Hypouricemia, renal, 2	GUncertain significance
Select item 2506948	NM_020041.3(SLC2A9):c.731T>A (p.Val244Asp)	SLC2A9 (V215D +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 2506947	NM_020041.3(SLC2A9):c.684G>A (p.Glu228=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 2446002	NM_020041.3(SLC2A9):c.929C>A (p.Ala310Asp)	SLC2A9 (A281D +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 2436015	NM_020041.3(SLC2A9):c.1105G>A (p.Val369Ile)	SLC2A9 (V340I +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 2436014	NM_020041.3(SLC2A9):c.62C>T (p.Thr21Ile)	SLC2A9 (T21I)	Single nucleotide variant (missense variant +1 more)	Hypouricemia, renal, 2	GUncertain significance
Select item 2436013	NM_020041.3(SLC2A9):c.94G>A (p.Ala32Thr)	SLC2A9 (A32T)	Single nucleotide variant (missense variant +1 more)	Hypouricemia, renal, 2	GUncertain significance
Select item 2148495	NM_020041.3(SLC2A9):c.541G>A (p.Ala181Thr)	SLC2A9 (A152T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069944	NM_020041.3(SLC2A9):c.1369G>A (p.Val457Ile)	SLC2A9 (V428I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1928845	NM_020041.3(SLC2A9):c.1339C>T (p.Arg447Trp)	SLC2A9 (R447W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1504763	NM_020041.3(SLC2A9):c.1518C>G (p.Thr506=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1287173	NM_020041.3(SLC2A9):c.681+25G>A	SLC2A9	Single nucleotide variant (intron variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 1247999	NM_020041.3(SLC2A9):c.250-40A>G	SLC2A9, SLC2A9-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1234312	NM_020041.3(SLC2A9):c.249+35C>T	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1165550	NM_020041.3(SLC2A9):c.1420-19del	SLC2A9	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1151314	NM_020041.3(SLC2A9):c.1114-29CT[8]	SLC2A9	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 1109344	NM_020041.3(SLC2A9):c.30G>A (p.Lys10=)	SLC2A9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1106602	NM_020041.3(SLC2A9):c.795C>T (p.Asn265=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GLikely benign
Select item 1096161	NM_020041.3(SLC2A9):c.726C>T (p.Ala242=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GLikely benign
Select item 1049499	NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)	SLC2A9 (G187R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027407	NM_020041.3(SLC2A9):c.593G>A (p.Arg198His)	SLC2A9 (R169H +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GPathogenic
Select item 1017579	NM_020041.3(SLC2A9):c.538G>A (p.Val180Ile)	SLC2A9 (V151I +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GUncertain significance
Select item 907839	NM_020041.3(SLC2A9):c.1622A>G (p.Ter541=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 907838	NM_020041.3(SLC2A9):c.*4G>A	SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 907837	NM_020041.3(SLC2A9):c.*136A>G	SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 906999	NM_020041.3(SLC2A9):c.547A>G (p.Ser183Gly)	SLC2A9 (S154G +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 906998	NM_020041.3(SLC2A9):c.575T>C (p.Ile192Thr)	SLC2A9 (I163T +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 906997	NM_020041.3(SLC2A9):c.619A>G (p.Ile207Val)	SLC2A9 (I178V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 906926	NM_020041.3(SLC2A9):c.909C>T (p.Ser303=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GBenign/Likely benign
Select item 906925	NM_020041.3(SLC2A9):c.937G>A (p.Val313Ile)	SLC2A9 (V313I +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GUncertain significance
Select item 906924	NM_020041.3(SLC2A9):c.1004T>C (p.Ile335Thr)	SLC2A9 (I335T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 905316	NM_020041.3(SLC2A9):c.1302G>A (p.Pro434=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 904605	NM_020041.3(SLC2A9):c.727G>A (p.Val243Ile)	SLC2A9 (V214I +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 904532	NM_020041.3(SLC2A9):c.1466T>C (p.Ile489Thr)	SLC2A9 (I489T +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GBenign
Select item 904531	NM_020041.3(SLC2A9):c.1581C>T (p.Ile527=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 903584	NM_020041.3(SLC2A9):c.227C>T (p.Ser76Leu)	SLC2A9 (S76L +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 899983	NM_020041.3(SLC2A9):c.-8T>G	SLC2A9	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 899982	NM_020041.3(SLC2A9):c.50T>G (p.Leu17Arg)	SLC2A9 (L17R)	Single nucleotide variant (missense variant +1 more)	Hypouricemia, renal, 2	GUncertain significance
Select item 860002	NM_020041.3(SLC2A9):c.45_50dup (p.Pro16_Leu17dup)	SLC2A9	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 830032	NM_020041.3(SLC2A9):c.1343C>T (p.Pro448Leu)	SLC2A9 (P419L +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GLikely pathogenic
Select item 829962	NM_020041.3(SLC2A9):c.759G>A (p.Pro253=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 725274	NM_020041.3(SLC2A9):c.123T>C (p.Ser41=)	SLC2A9	Single nucleotide variant (synonymous variant +1 more)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 632448	NM_020041.3(SLC2A9):c.512G>A (p.Arg171His)	SLC2A9 (R142H +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350241	NM_020041.3(SLC2A9):c.250-9T>C	SLC2A9, SLC2A9-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 350240	NM_020041.3(SLC2A9):c.322T>C (p.Leu108=)	SLC2A9, SLC2A9-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 350239	NM_020041.3(SLC2A9):c.351C>T (p.Phe117=)	SLC2A9, SLC2A9-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 350238	NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)	SLC2A9, SLC2A9-AS1 (I90fs +1 more)	Duplication (frameshift variant)	Hypouricemia, renal, 2 +1 more	GConflicting classifications of pathogenicity
Select item 350237	NM_020041.3(SLC2A9):c.375G>A (p.Thr125=)	SLC2A9, SLC2A9-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 350236	NM_020041.3(SLC2A9):c.504C>T (p.Ile168=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 350235	NM_020041.3(SLC2A9):c.567T>C (p.Leu189=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 350234	NM_020041.3(SLC2A9):c.666C>T (p.Pro222=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GBenign/Likely benign
Select item 350233	NM_020041.3(SLC2A9):c.681+13C>T	SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 350220	NM_020041.3(SLC2A9):c.798G>A (p.Glu266=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350219	NM_020041.3(SLC2A9):c.809T>C (p.Val270Ala)	SLC2A9 (V241A +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 350218	NM_020041.3(SLC2A9):c.824C>T (p.Thr275Met)	SLC2A9 (T246M +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 350217	NM_020041.3(SLC2A9):c.841G>C (p.Asp281His)	SLC2A9 (D252H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 350216	NM_020041.3(SLC2A9):c.843C>T (p.Asp281=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GBenign/Likely benign
Select item 350215	NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile)	SLC2A9 (V253I +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 350214	NM_020041.3(SLC2A9):c.879C>G (p.Ser293Arg)	SLC2A9 (S293R +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350213	NM_020041.3(SLC2A9):c.881G>A (p.Arg294His)	SLC2A9 (R265H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 350212	NM_020041.3(SLC2A9):c.883G>A (p.Val295Met)	SLC2A9 (V295M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 350211	NM_020041.3(SLC2A9):c.898C>T (p.Arg300Cys)	SLC2A9 (R300C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 350210	NM_020041.3(SLC2A9):c.899G>A (p.Arg300His)	SLC2A9 (R300H +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GBenign/Likely benign
Select item 350209	NM_020041.3(SLC2A9):c.957C>T (p.Thr319=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 350208	NM_020041.3(SLC2A9):c.1046C>T (p.Pro349Leu)	SLC2A9 (P320L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 350207	NM_020041.3(SLC2A9):c.1049C>T (p.Pro350Leu)	SLC2A9 (P350L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 350206	NM_020041.3(SLC2A9):c.1085G>A (p.Gly362Asp)	SLC2A9 (G333D +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350205	NM_020041.3(SLC2A9):c.1113+9A>C	SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 350204	NM_020041.3(SLC2A9):c.1124T>C (p.Ile375Thr)	SLC2A9 (I346T +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350203	NM_020041.3(SLC2A9):c.1203G>A (p.Thr401=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 350202	NM_020041.3(SLC2A9):c.1221C>T (p.His407=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 350201	NM_020041.3(SLC2A9):c.1299C>T (p.Ile433=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 350200	NM_020041.3(SLC2A9):c.1356C>T (p.Ile452=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350199	NM_020041.3(SLC2A9):c.1368C>T (p.Thr456=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GBenign
Select item 350198	NM_020041.3(SLC2A9):c.1392T>C (p.Ala464=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350197	NM_020041.3(SLC2A9):c.1399C>A (p.Leu467Ile)	SLC2A9 (L438I +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350196	NM_020041.3(SLC2A9):c.1413C>A (p.Phe471Leu)	SLC2A9 (F442L +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350195	NM_020041.3(SLC2A9):c.1545C>T (p.Ser515=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 350194	NM_020041.3(SLC2A9):c.1599T>C (p.Asp533=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 350193	NM_020041.3(SLC2A9):c.*48C>G	SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 350192	NM_020041.3(SLC2A9):c.*110G>T	SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hypouricemia, renal, 2	GBenign
Select item 350191	NM_020041.3(SLC2A9):c.*129C>A	SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 347007	NM_020041.3(SLC2A9):c.72C>T (p.Ala24=)	SLC2A9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 347006	NM_020041.3(SLC2A9):c.73G>A (p.Gly25Arg)	SLC2A9 (G25R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 347005	NM_020041.3(SLC2A9):c.150+9G>A	SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 347004	NM_020041.3(SLC2A9):c.198C>G (p.Gly66=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 347002	NM_020041.3(SLC2A9):c.249+11G>T	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	Hypouricemia, renal, 2 +1 more	GBenign/Likely benign
Select item 217422	NC_000004.12:g.(?_9826223)_(9908346_9920384)del	SLC2A9	Deletion	Hypouricemia, renal, 2	GPathogenic
Select item 217421	NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)	SLC2A9-AS1, SLC2A9 (T125M +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GLikely pathogenic
Select item 217420	NM_020041.3(SLC2A9):c.511C>T (p.Arg171Cys)	SLC2A9 (R171C +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 217419	NM_001001290.1(SLC2A9):c.595_727del	LOC126806970, LOC129992239 +1 more	Deletion	Hypouricemia, renal, 2	GPathogenic
Select item 217418	NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)	SLC2A9 (L75R +1 more)	Single nucleotide variant (missense variant)	SLC2A9-related disorder +1 more	GLikely pathogenic
Select item 4598	NM_020041.3(SLC2A9):c.1235C>G (p.Pro412Arg)	SLC2A9 (P412R +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GPathogenic
Select item 4597	NM_020041.3(SLC2A9):c.592C>T (p.Arg198Cys)	SLC2A9 (R198C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4596	NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)	SLC2A9 (R380W +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2 +1 more	GConflicting classifications of pathogenicity

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Items: 97